A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447913



Internal ID226203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4324713..4325623hg38UCSC Ensembl
chr2:4372303..4373213hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38911
hg19911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909582
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447913
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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